Epileptic encephalopathy due to GLUT1 deficiency: a case report

Case presentation: H.M.B.R., female, 5 years, mother with gestational diabetes. Birth weight of 4240 g, full term, APGAR 9/9, neonatal hypoglycemia as intercurrence. At the age 11 months and 14 days had her first epileptic seizure, being hospitalized treated phenobarbital, no effective response. Family history epilepsy. 2 years 8 months, was reassessed for worsening refractory epilepsy associated neurological regression, presenting 6 or more daily episodes generalized tonic-clonic seizures, followed by absence in addition to speech delay. She diagnosed myoclonic delayed neuropsychomotor development. EEG concluded paroxysmal abnormality through occurrence bursts spike-slow wave complexes, 3–4 cm/s, generalized, prevalent frontocentral areas. Even use other antiepileptic drugs (levetiracetam, valproic acid, topiramate clobazam) a regimen polytherapy combinations doses, patient remained seizures.